Jiang Joanna, Waidyaratne Gavisha, Mussad Shiab, Harris Spencer, Roberts Maegan E, Gokun Yevgeniya, Freeman A Jay, Han Samuel, Hart Phil A, Lara Luis F, Lee Peter J, Krishna Somashekar G, Papachristou Georgios I, Stanich Peter P, Ramsey Mitchell L
Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Division of Medical Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Clin Transl Gastroenterol. 2025 Apr 18;16(7):e00846. doi: 10.14309/ctg.0000000000000846. eCollection 2025 Jul 1.
Pathogenic variants (PVs) in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene are commonly reported across the spectrum of pancreatitis, including acute (AP), recurrent acute (RAP), and chronic pancreatitis (CP). We aimed to define the pooled prevalence of CFTR PVs according to pancreatitis phenotype.
A systematic search using synonyms for CFTR and pancreatitis was performed in Embase and Pubmed databases. The primary outcome was the frequency of subjects with at least one CFTR PV among those who underwent germline CFTR testing. Subgroup analyses included age, pancreatitis etiology, and genetic testing strategy. Confidence intervals (CIs) were obtained using the exact binomial method (Clopper-Pearson), and a Sidik-Jonkman random-effects model was used to calculate pooled prevalence.
In total, 138 studies were included in the final analysis; 17 (n = 1,873) reported populations with AP, 21 (n = 1,172) with RAP, 86 (n = 13,428) with CP, and 36 (n = 4,521) with unspecified pancreatitis type. The pooled prevalence of at least one CFTR PV was 8.0% (95% CI: 4.3%-14.4%) of AP, 16.4% (95% CI: 10.2%-25.4%) of RAP, 15.3% (95% CI: 12.2%-19.0%) of CP, and 25.0% (95% CI: 17.5%-34.3%) of unspecified pancreatitis. Heterogeneity was high in each phenotype (I 2 value range 88.3%-96.7%).
These findings underscore the complex landscape of CFTR PVs in pancreatitis, emphasizing the importance of tailored approaches in addressing this genetic component across diverse patient groups and phenotypic presentations. In addition, these data are useful for pretest genetic counseling and provide a justification for developing CFTR -directed interventions.
囊性纤维化跨膜传导调节因子（CFTR）基因的致病变异（PVs）在胰腺炎谱系中普遍存在，包括急性胰腺炎（AP）、复发性急性胰腺炎（RAP）和慢性胰腺炎（CP）。我们旨在根据胰腺炎表型确定CFTR PVs的合并患病率。
在Embase和Pubmed数据库中使用CFTR和胰腺炎的同义词进行系统检索。主要结局是在接受种系CFTR检测的受试者中至少有一个CFTR PV的受试者频率。亚组分析包括年龄、胰腺炎病因和基因检测策略。使用精确二项式方法（Clopper-Pearson）获得置信区间（CIs），并使用Sidik-Jonkman随机效应模型计算合并患病率。
最终分析共纳入138项研究；17项（n = 1873）报告了AP人群，21项（n = 1172）报告了RAP人群，86项（n = 13428）报告了CP人群，36项（n = 4521）报告了未明确胰腺炎类型的人群。至少一个CFTR PV的合并患病率在AP中为8.0%（95%CI：4.3%-14.4%），在RAP中为16.4%（95%CI：10.2%-25.4%），在CP中为15.3%（95%CI：12.2%-19.0%），在未明确胰腺炎中为25.0%（95%CI：17.5%-34.3%）。每种表型的异质性都很高（I²值范围为88.3%-96.7%）。
这些发现强调了CFTR PVs在胰腺炎中的复杂情况，强调了针对不同患者群体和表型表现采用定制方法来解决这一遗传因素的重要性。此外，这些数据对检测前的遗传咨询有用，并为开发针对CFTR的干预措施提供了依据。
